P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis
She was managed on corn starch every 4 h until 2 years of age. At age of 2, she started with long-acting maize-based starch at bedtime to improve sleep. She had recurrent bacterial infections: gingivitis, mastoiditis, and recurrent oral ulcers, each of which required hospital admission for antibiotics and GCSF. She also required admissions for management of hypoglycemia. She contracted MISC-COVID in 2020, requiring GCSF, intravenous immunoglobulin, and packed red blood cells to treat anemia. At age 7, she was started on SGLT-2 inhibitor and has been on it for almost 3 years.
Authors
- Debra S. Regier (ORCID: https://orcid.org/0000-0001-7525-0088)
- Emily E. Way
- Nidhi Gupta (ORCID: https://orcid.org/0000-0003-2565-2446)
- Niccole B. Piguet (ORCID: https://orcid.org/0000-0002-8388-0271)
- Nina Mickle
- Jennifer Russell
Institutions
- Inova Health System (US)
- Children's National (US)
- Virginia Cancer Specialists (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102929
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00